Artikel ; Online: Juvenile-onset systemic lupus erythematosus and MEFV polymorphism: A case-control association study among Iranian children.
Reumatologia clinica
2023 Band 19, Heft 6, Seite(n) 306–311
Abstract: Introduction and objectives: This study is designed to evaluate the potential influences of Mediterranean fever gene (MEFV) gene polymorphism on systemic lupus erythematosus (SLE) in a cohort of juvenile patients. A case-control study was performed on ... ...
Abstract | Introduction and objectives: This study is designed to evaluate the potential influences of Mediterranean fever gene (MEFV) gene polymorphism on systemic lupus erythematosus (SLE) in a cohort of juvenile patients. A case-control study was performed on Iranian patients with a mixed ethnicity population. Patients and methods: Genotypes of 50 juvenile cases, and 85 healthy controls were investigated for identifying M694V and R202Q polymorphism. Genotyping was done utilizing amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) to detect M694V and R202Q mutations, respectively. Main findings: Our study indicates significant differences in the alleles and genotypes frequencies of MEFV polymorphism between SLE patients and healthy controls (P<0.05). Also, an association was found between renal involvement (50% vs. 8.3%, P=0.000, OR=0.91, 95% CI=0.30-0.278) in juvenile SLE patients and M694V polymorphism incident; But there was no association with other clinical manifestations. Principal conclusion: We found a significant association between R202Q and M694V polymorphism of the MEFV gene and susceptibility to SLE in the studied population; However, further studies on detailed characterization of these polymorphisms' impacts on the key elements responsible for SLE pathogenesis is of great importance. |
---|---|
Mesh-Begriff(e) | Humans ; Child ; Iran ; Case-Control Studies ; Polymorphism, Genetic ; Lupus Erythematosus, Systemic/genetics ; Lupus Erythematosus, Systemic/pathology ; Genotype ; Pyrin/genetics |
Chemische Substanzen | MEFV protein, human ; Pyrin |
Sprache | Englisch |
Erscheinungsdatum | 2023-04-12 |
Erscheinungsland | Spain |
Dokumenttyp | Journal Article |
ISSN | 2173-5743 |
ISSN (online) | 2173-5743 |
DOI | 10.1016/j.reumae.2022.07.003 |
Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
Volltext online
Zusatzmaterialien
Kategorien
Über subito bestellen
Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.
Fernleihe an ZB MED
Sie können sich den gewünschten Titel als lokale Nutzerin oder lokaler Nutzer von ZB MED direkt an den Standort Köln schicken lassen.